616. 1 2 6 . 46-07

EBSTEIN’S ANOMALY O F THE TRICUSPID VALVE

KENNETH WALTON and A. G. SPENCER Department of Morbid Anatomy and Medical Unit,

University College Hospital

(PLATES LXX AND LXXI)

CONGENITAL malformation of the tricuspid valve is rare. In a series of 1000 cases of congenital heart disease, Abbott mentions 13 instances of stenosis and 25 of tricuspid atresia, many of them associated with other developmental defects. Nevertheless a great variety of tricuspid anomalies have been described (Herxheimer, 1910 ; Abbott, 1946). Ebstein (1866) was the first to report a congenital displacement of the tricuspid valve associated with patency of the foramen ovale. Since then, 15 similar cases have appeared in the literature and these have been reviewed by Yater and Shapiro (1937-38). Two further cases have recently been reported by Zink (1937) and Bauer (1945).

The essential feature of Ebstein’s anomaly is the downward displacement of a malformed tricupsid valve into the right ventricle. Whereas the anterior leaflet is in part attached to the annulus fibrosus; the remainder arises with the middle and posterior leaflets from the right ventricular wall and interventricular septum. The right side of the heart is thus so divided that part of the right ventricle functions with the right auricle. The individual leaflets are thickened and sometimes undifferentiated. Incompetence results from short chord= tendiniae and poorly developed papillary muscles. Both right auricle and right ventricle are dilated and hypertrophied. The foramen ovale is usually patent (16 out of 19 cases), possibly as a result of the increased pressure within the right auricle. The Eustachian and Thebesian valves are often well developed and may help to prevent the regurgitation of blood into the venae cavae and the coronary sinus. The main features of the anomaly are represented diagrammatically in fig. 1.

There is no characteristic clinical picture, as this depends on the degree of tricuspid incompetence and the volume of blood shunted through the foramen ovale. Dyspncea, cyanosis and clubbing of the fingers may be marked or absent. The heart is enlarged and X-ray examination shows that the right chambers are mainly affected. A long systolic murmur maximal in the third and fourth left intercostal

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388 K. WALTON AND A . G . SPENCER

spaces close to the sternum is usually present, sometimes with a systolic thrill and rarely a diastolic bruit. There may be no murmurs. Signs of tricuspid incompetence such as systolic pulsation in the veins and expansile pulsation of the liver are often absent. The average age at death is 25 years, but three cases have enjoyed normal health for over 50 years. Pulmonary tuberculosis is reported in four cases and sudden death in another four.

Normal Po.Ition of Trlcuvpid Valve

rl. l l*.d port1

FIQ. 1.-Diagrammatic representation of anomalies found in Ebstein's disease.

The cases reported in the literature are summarised in the

The present case is remarkable for the length of normal health, accompanying table. Full clinical details were not always available.

the absence of murmurs and the terminal paradoxical embolism.

Case history

A married woman aged 53 years was admitted to University College Hospital on the 10th September 1947, under the care of Professor H. P. Himsworth and Dr M. L. Rosenheim. Her symptoms apparently commenced after a fall from her bicycle twelve months previously. Since then she had developed a gradually increasing degree of tiredness, breathlessness on exertion, nocturnal frequency of micturition and swelling of the ankles. Friends remarked upon the blue colour of her lips and noticed that this increased as her health deteriorated. On several occasions in the past six months she had experienced a sense of oppression behind the lower part of the sternum after walking, and this was relieved by rest.

In childhood she had had diphtheria and scarlet fever, but none of the rheumatic diseases. At 26 and 30 years of age there were normal pregnancies with no distress in labour. Subsequently she had three miscarriages, but there was no evidence to suggest that these were due to heart disease.

E B S T E I N S T R I C U S P I D V A L V E ANOMALY

TABLE List of reported cases of Ebstein’s anomaly of the tricuspid valve

389

Case

1. Ebstein, 1866

2. Marxsen, 1886 (quoted by Yater and Shapiro, 1937. 38)

3. MacCallum, 1900 . 4. Schonenberger, 1903

(quoted by Yater and Shapiro, 1937- 38)

5. Geipel, 1903 . . 6. ,, 7. 3 ,

. . . .

8. Malan. 1908

9. Heigel, 1913 . .

12. Blackhall-Morison and Shaw, 1919-20

13. BlackhaU-Morison,

14. Arnstem. 1927-28 . 1922-23

15. Bassen (quoted by Abbott, 1928)

16. Yater and Shapiro, 1937-38

17. Zink, 1937

18. Bauer, 1945 . .

19. Present case . .

J . PATH. BACT-VOL. LX

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Clinical features (where stated)

Dyspucea since childhood. Heart greatly enlarged, with systolic and diastolic murmurs a t base. Signs of tricuspid regurgitation. Died from pulmonary tubercu. losis and congestive heart failure

Heart lesion not detected during life. Died from ulcerative colitis

Cyanoned sincr Lirth. Vied of yulmouary tuberruludis and coupi*;itive heart failure

Cyanosis and clubbing. Heart enlarged tort.. precordial thrill ; systolic and diastolic murmurs over precordium. Sudden death

Museum specimens

CyiAosis an2 congestive heart failure for 3 months. Heart enlarged to I t . and rt. Heart sounds weak and gallop rhythm. Paradoxical embolism

Heart trouble for 2 years. En- larued heart with loud Drecordial sys‘tolic murmur. Diid in con- gestive heart failure

Healthy until death from cerebral abscess, but had slight cyanosis and a systolic mumur

Cyanosis and clubbing of flngers. Death from measles

Museum specimen

Heart trouble for 3 years. Loud flrst heart sound and systolic bruit. Died of pulmonary and meningeal tuberculosis

Heart trouble since 21. Sudden death

Dyspncea cyanosis and clubbing of flngeks since childhood. Heart enlarued : svstolic and diastolic ~ ~~~ ~~~~~. . - , ” murmurs ; distended cervical veins. Died of pulmonary t,iihnrciilnaia - - . . . -. . ...

Palpitation, dyspnaea and cyanosis for several years. Heart eu- larged to It. and rt. Systolic and diastolic . thrills. -Died of erysipelas

Heart disease discovered a t 7 years of age a t routine examination. Fit until 20, then slight dyspncea and cyanosis . sudden death a t 21. Heart eniarged to It. and rt. Harsh systolic murmur along It. border

Cyanosis and clubbing of flngers for 5 years. Dyspncea, angina and cedema 1 year. Heart. enlarued to It. and rt. Svstolir murnTur maximal over pilmon: ary area. Died of miliary tuberculosis

Dyspncea and palpitation ; sudden death. Heart enlarged to I t . and rt. Systolic and diastolic murmurs. No cyanosis or dis- tended veins

Well until one year before death, Dyspncea, cyanosis and anginal pain. Congestive failure cyauo- sis, high venous pressure.’ Heart enlarged to It. and rt. No murmurs. Pulmonary embolism and paradoxical embolism

Heart lesion

Both rt. ventricle and rt. auricle dilated and hyper- trophied. Patent fora- men ovale. Tricuspid valve malformed and dis- placed into rt. ventricle

Both auricles and rt. ventricle grossly dilated, otherwise similar to Ebstein’s case

As for Ebstein’s case

Similar to Ebstein’s case but foramen ovale not patent

As for Ebstein’s case

Similar t o Ebstein’s case but foramen ovale closed

As for Ebstein’s case

As forEbstein’s case except that the tricuspih valve was both stenosed and incompetent

Typical Ebstein’s disease

Rt. auricle and rt. ventricle dilated and hypertrophiei Tricuspid valve partly attached to annulus flbrosus and partly t c interventricular septum. No typical papillary muscles and valve in- competent. Patent fora- men ovale

Typical Ebstein’s disease

Rt . auricle and ventricle both dilated and hyper- trophied. Patent foramen ovale. Atresia and dis- placement of tricuspid valve into rt. ventricle. Myocardial flbrosis secondary to coronary atheroma

2 0

390 K. W A L T O N AND A. Q. S P E N C E R

On admimion the most noticeable feature was the pronounced cyanosis with surprisingly little dyspncea. There was no clubbing of the Gngers. The pulse was regular at 80 beats a minute, with normal arteries and fun&. The blood pressure was l40/90 mm. Hg., but had been 170/110 when measured in the out-patient department a week before. Venous congestion in the neck was over three inches; the veins could be emptied and did not pulsate excessively. There was moderate cedema of the ankles and rales were present a t both lung bases, but there was no ascites or pleural effusion. The liver was tender and palpable two inches below the right costal margin ; it did not show expansile pulsation. A forcible apex beat was palpable 4* inches from the mid- line in the 5th intercostal space. The percussion note was normal at the base and the right border of cardiac dullness was 2 inches to the right of the midline. Apart from an accentuated second sound over the pulmonary area the heart sounds were normal and there were no murmurs. The following investigations were made at this time.

X-ray. Enlargement of both ventricles and auricles without prominence of conus arteriosus. Lung fields congested (fig. 2).

E.C.Q. Low voltage curves, normal rhythm and right ventricular pre- ponderance (fig. 3).

Blood. Hb 106 per cent., R.B.C. 6,500,000, W.R.-: Serum anti-com- plementary .

Circulation time. Decholin arm-tongue time 23 seconds. Ether arm-lung time 12 seconds, but end-point indefinite. The cyanosis and high venous pressure disproportionate to the dyspnaea being still unexplained, i t was considered that an estimation of the vital capacity might help to exclude a pulmonary cause, and that direct measurement of the venous pressure would establish this factor beyond doubt.

Vital capacitg : 2370 C.C. (normal 3500 c.c.). Direct mRasuremRnt of venous pressure (Kendrew, 1926) : 14 cm. of saline,

with normal respiratory excursion and no excessive systolic pulsation. The congestive heart failure was a t first considered t o have been precipitated

by hypertension and coronary disease, but as this did not account for the very high venous pressure and marked cyanosis, other factors were discussed. The slight dyspncea with high venous pressure was consistent with a diagnosis of constrictive pericarditis, but the other clinical and radiological features of this condition were absent. Chronic cop pulmonale could produce the congestive failure, cyanosis, polycythaemia and loud pulmonary second heart sound, and the X-ray and electrocardiographic evidence of right ventricular hypertrophy, but the absence of signs and symptoms of pulmonary disease, the poor response to oxygen therapy and the relatively normal vital capacity did not support this diagnosis. Congenital heart disease was suggested by the right ventricular hypertrophy and cyanosis, but the absence of murmurs and of any characteristic cardiac configuration made a certain diagnosis impossible.

Complete rest, restricted fluids with low salt intake, digitalis and oxygen therapy produced no clinical improvement. A few hours after a small vene- section (300 c.c.) the classical symptoms and signs of a large pulmonary embolism occurred, and later those of infarction of the left lower lobe. The source of this embolus was probably the calf veins, as thrombosed and tender veins were subsequently felt in both legs. Treatment with heparin and Dicoumarol was begun at once and controlled by frequent prothrombin estimations, but after ten days this therapy was discontinued in order that a large left pleural effusion could be tapped. Frank haematuria occurred at this time, although the pro- thrombin and clotting times were normal. The patient continued desperately ill, with repeated haemoptyses and recurring left pleural effusion, and she died three weeks after the pulmonary embolism.

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EBSTEIN’S TRICUSPID VALVE ANOMALY

PLATE LXX

FIG. 2.-X-ray showing enlargement of both ventricles and auricles (without prominence of the conus arteriosus) and congestion of the lung fields.

FIG. 3.-E.C.C. showing low voltage curve, FIG. 5. - Section through interventricular normal rhythm and right ventricular pre- septum. A = interauricular septum ; &I =

ponderance. mitral valve; S = displaced septa1 cusp of tricuspid valve; V = interventricularseptum. Roticulin stain. x 5 .

EBSTEIN’S TRICUSPID VALVE ANOMALY 39 1

Autopsy report The autopsy was performed by Professor G. R. Cameron 25 hours

after death. Externally, the features of note were the cyanosis of the lips and mucous membranes and the swelling and edema of both legs, especially the right.

Heart. The heart was enlarged (425 g.). Hypertrophy and dilatation of the right side of the heart were particularly obvious. The pericardial sac contained 5 oz. of clear, straw-coloured fluid but there was no evidence of pericarditis. There was a moderate amount of subepicardial fat and the coronary veins were congested.

Valves. The tricuspid valve was found to be displaced, malformed and obviously incompetent. The true atrio-ventricular opening was widely dilated, being 15 cm. in circumference. The actual orifice of the valve was also dilated and the line of attachment of the cusps was displaced downwards into the right ventricle. The opening was bounded medially by a small incompetent septal cusp and anteriorly and laterally by a single membrane which represented the fused anterior and posterior cusps. The septal cusp arose from the inter- ventricular septum and ventricular wall 3 cm. below the annulus fibrosus, its normal line of attachment. This cusp was smaller than normal, irregularly roughened and thickened and the chordae arising from it were mostly short, thin and inserted directly into the ventricular wall without the intervention of papillary muscles (fig. 4). The cusp was, in consequence, bound down to the interventricular wall and clearly incompetent. The anterior and posterior cusps were fused at their adjoining edges, forming a single membrane arising in part from the interventricular wall and in part from the wall of the ventricle below the atrio-ventricular groove.

Apart from a slight Monckeberg’s ring in the aortic valve, the other valves showed no abnormality and were competent.

Chambers. The right auricle was dilated and its wall was thin. The dilatation extended to the auricular appendage, which contained in a ddition anumber of small ante-mortem clots adherent to the muscle. The inter-auricular septum showed a slit-like patency of the foramen ovale. The opening present was 1.5 cm. wide and passed obliquely forward through the septum into the left auricle. The opening of the superior vena cava was guarded by a well-marked Eustachian valve. The coronary sinus was dilated but no definite Thebesian valve was present. Due to the dkplaced position of the tricuspid valve a portion of the right ventricle was “ atrialised ”, i.e. was functionally continuous with the right auricle.

The left auricle was free from clot. The opening in the anterior border of the foramen ovale was guarded by a crescentic valve-like flap.

The left ventricle was normal in size and shape. The muscle of the left ventricle showed patchy fibrosis at the apex and on its septal surface.

392 K . WALTON AND A . G. SPENCER

The walls of all four chambers felt firmer and more fibrous than normal.

Vesseb. The aorta and pulmonary artery were in normal relation- ship with one another and with their respective ventricles. The aorta was narrowed throughout its length and showed moderate atheroma of its abdominal portion. A small atheromatous plaque considerably narrowed the anterior descending branch of the left coronary artery but complete occlusion had not occurred.

A paradoxical embolus was found in the left common iliac artery. This was a loose ante-mortem clot about 0.5 cm. in diameter and 5 cm. in length lying free within the left common iliac artery and extending into the external iliac artery. The source of this embolus appeared to be a large ante-mortem thrombus firmly attached to the wall of the left femoral vein and extending down the leg to the commencement of the popliteal vein.

Evidence of embolism and infarction was also found in the lungs, spleen and both kidneys. An infarct in the lower lobe of the left lung occupied the whole lobe and was accompanied by a massive fibrinous pleurisy in the left pleural cavity. The remaining organs were congested but showed no other pathological abnormality.

Microscopic examination showed no evidence of rheumatic disease in the myocardium or in the malformed valve. The myocardium of both ventricles and of the right auricle showed widespread fibrosis of the type associated with long-standing ischaemia. The lumen of the left descending coronary artery was partially filled by an atheromatous plaque containing microscopic foci of calcification. The smaller vessels throughout the myocardium showed hyaline thickening of their walls and great reduction of their lumina.

The cause of death was myocardial failure associated with chronic myocardial fibrosis and tricuspid insufficiency, the latter being caused by a congenital abnormality of the tricuspid valve (Ebstein’s anomaly). Pulmonary embolism and infarction, infarction of the spleen and kidneys and paradoxical embolism involving the left common and external iliac arteries originating from the left femoral and popliteal veins were also found.

Summary

Previously reported cases of Ebstein’s anomaly of the tricuspid valve are reviewed in summarised form and a further case showing in addition the phenomenon of paradoxical embolism, is reported.

We wish to record our grateful thanks to Profeasor G. R. Cameron, Professor H. P. Himsworth and Dr M. L. Rosenheim for encouragement and permission to report this case and for their help in preparing the manuscript.

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EBSTEIN’S TRICUSPID VALVE ANOMALY

PLATE LXXI

FIG. 4.-Showing displaced and atresic septa1 cusp and patent foramon ovalc.

EBSTEIN’S TRICUSPID V A L V E A N O M A L Y 393

REFERENCES

ABBOTT, MAUDE E. . . . . 1928. In Blumer’s Bedside diagnosis,

,, . . . . . . 1946. In Nelson’s Looseleaf medicine, New Philadelphia, ii, 482.

York, iv, 228. ARNSTEIN, A. . . . . . . 1927-28. Arch. path. Anat., cclxvi, 247. BAUER, D. DEF. . . . . . 1945. Amer. J . Roentgenol., liv, 136. BLACKHALL-MORISON, A. . . . 1922-23. J . Anat., lvii, 262. BLACKHALL-MORISON, A., AND 1919-20. Ibid., liv, 163.

EBSTEIN, W. . . . . . . 1866. Arch. f. Anat. u. Physiol., 238. GEIPEL, P. . . . . . . . 1903. Arch. path. Anat., clxxi, 298. HEIGEL, A. . . . . . . . 1913. Ibid., ccxiv, 301. HERXHEIMER, GI . . . . . . 1910. Missbildung des Herzens und der

grossen Gefiisse. In Schwalbe’s Die Morphologie der Missbild- ungen des Menschen und der Tiere, Jena, I11 Teil, I11 Lief., s. 339.

SHAW, E. H.

KENDREW, A. . . . . . . 1926. Heart, xiii, 101. MACCALLUM, W. G. . . . . 1900. Johns Hopkins Hosp. Bull., xi, 69. MALAN, G. . . . . . . . 1908. Cbl. allg. Path., xix, 452. YATER, W. M., AND SHAPIRO, M. J. ZINE, A. . . . . . .. . . 1937. Arch. path. Anat., ccxcix, 235.

1937-38. Ann. Int. Med., xi, 1043.

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